Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal hair quantity (HP:0011362)

Parent Node:
Alopecia (HP:0001596)

..Starting node
..Progressive alopecia (HP:0002287)

Term ID:

2287

Name:

Progressive alopecia

Synonym:

Definition:

Progressive loss of hair.

Comments:

Reference:

HP:0002287

Genes and Diseases:

Child Nodes:

Sister Nodes:

Alopecia of scalp (HP:0002293)

Alopecia totalis (HP:0007418)

Alopecia universalis (HP:0002289)

obsolete Alopecia areata (HP:0002229)

Patchy alopecia (HP:0002232)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002287	HP:0002287	Progressive alopecia	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.	140

Genes (1) :TP63

Diseases (1) :OMIM:129400

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.